Letters to the editor
Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis
| The first 150 words of the full text of this article appear below. |
EDITOR
Craniolacunia
("Lückenschädel") describes rounded or finger-like defects of
the inner table of the membranous portion of the skull that are
surrounded by strips of normal bone.1 In most cases,
craniolacunia is associated with spina bifida and a resulting myelo- or
myelomeningocele. Additional associated anomalies include
hydrocephalus, Arnold-Chiari malformation (congenital hindbrain
hernia), and Klippel-Feil sequence (fusion of cervical vertebrae/hemivertebrae).2 The pathological mechanism
resulting in craniolacunia is not known. Since depressions in the inner table of the calvarium are particularly deep in cases of oxycephaly, scaphocephaly, and brain tumour, increased intracranial pressure was
invoked as an aetiological factor.1 Increased intracranial pressure, however, can give rise to impressiones digitatae (impressions of cerebral gyri) but does not in itself result in craniolacunia. Thus,
craniolacunia has not been reported in any patient with FGFR associated
autosomal dominant craniosynostosis. A more recent hypothesis assumes
internal decompression and concomitant external compression of the
calvarium as
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